Mutagenetix > Incidental Mutation

Incidental Mutation 'R5261:Prmt5'

401461

Institutional Source

Beutler Lab

Gene Symbol

Prmt5

Ensembl Gene

ENSMUSG00000023110

Gene Name

protein arginine N-methyltransferase 5

Synonyms

Jbp1, Jak-binding protein 1, Skb1

MMRRC Submission

042830-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5261 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54744639-54754927 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 54745373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 598 (I598S)

Ref Sequence

ENSEMBL: ENSMUSP00000023873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023873] [ENSMUST00000132227]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023873
AA Change: I598S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023873
Gene: ENSMUSG00000023110
AA Change: I598S

Domain	Start	End	E-Value	Type
low complexity region	1	18	N/A	INTRINSIC
Pfam:PRMT5	181	619	4.5e-184	PFAM
Pfam:SAMBD	184	465	3e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132227

SMART Domains

Protein: ENSMUSP00000138549
Gene: ENSMUSG00000023110

Domain	Start	End	E-Value	Type
low complexity region	1	18	N/A	INTRINSIC
PDB:4GQB\|A	19	40	5e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000139964

SMART Domains

Protein: ENSMUSP00000121502
Gene: ENSMUSG00000023110

Domain	Start	End	E-Value	Type
Pfam:PRMT5	1	62	1.3e-10	PFAM
Pfam:SAMBD	1	203	4.6e-68	PFAM
Pfam:PRMT5	52	203	1.2e-56	PFAM

Meta Mutation Damage Score

0.8029

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

96% (64/67)

MGI Phenotype

FUNCTION: This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation and the assembly of small nuclear ribonucleoproteins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality before somite formation with failure of inner cell mass proliferation. [provided by MGI curators]

Allele List at MGI

All alleles(9) : Targeted, other(4) Gene trapped(5)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	C	G	2: 152,282,777 (GRCm39)	P211A	probably damaging	Het
Ambra1	G	A	2: 91,715,951 (GRCm39)	V761M	probably damaging	Het
Amfr	T	A	8: 94,702,798 (GRCm39)		probably null	Het
Asphd1	C	A	7: 126,545,287 (GRCm39)	A357S	probably benign	Het
Brd3	C	A	2: 27,353,931 (GRCm39)	Q60H	probably damaging	Het
Cd96	T	A	16: 45,890,016 (GRCm39)	M336L	probably benign	Het
Cep152	T	A	2: 125,406,125 (GRCm39)	H1469L	probably benign	Het
Coro1a	G	T	7: 126,299,816 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,171,555 (GRCm39)	L871Q	probably benign	Het
Depdc5	C	T	5: 33,095,635 (GRCm39)	P824L	probably damaging	Het
Enpep	T	G	3: 129,099,075 (GRCm39)	D467A	probably damaging	Het
Extl2	G	A	3: 115,821,013 (GRCm39)	A273T	probably benign	Het
Foxi3	T	A	6: 70,937,500 (GRCm39)	F218Y	probably damaging	Het
Golga2	A	G	2: 32,194,166 (GRCm39)	M521V	probably benign	Het
Gpr142	T	A	11: 114,695,168 (GRCm39)	N44K	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,061 (GRCm39)	I440V	probably benign	Het
Gucy1b2	T	A	14: 62,642,028 (GRCm39)	K698I	probably damaging	Het
Hspa1b	T	C	17: 35,177,983 (GRCm39)	M1V	probably null	Het
Ints9	T	A	14: 65,245,521 (GRCm39)	Y260N	probably benign	Het
Khdc3	T	G	9: 73,010,768 (GRCm39)	V182G	possibly damaging	Het
Ky	A	G	9: 102,414,798 (GRCm39)		probably null	Het
Map2k1	T	A	9: 64,098,843 (GRCm39)	I263F	probably damaging	Het
Or13a18	A	C	7: 140,190,576 (GRCm39)	I166L	probably benign	Het
Or2t47	T	C	11: 58,442,877 (GRCm39)	S63G	probably benign	Het
Or5ak25	A	G	2: 85,269,241 (GRCm39)	V87A	probably benign	Het
Otogl	T	A	10: 107,613,453 (GRCm39)	H2004L	probably benign	Het
Palmd	T	C	3: 116,717,009 (GRCm39)	H496R	probably benign	Het
Papolb	C	G	5: 142,515,409 (GRCm39)	R78P	possibly damaging	Het
Pcdh10	G	A	3: 45,336,247 (GRCm39)	G854R	probably damaging	Het
Pdcd11	A	G	19: 47,101,976 (GRCm39)	I1054V	probably benign	Het
Pik3ap1	A	T	19: 41,364,545 (GRCm39)	L58Q	probably damaging	Het
Ppp2ca	A	G	11: 51,989,937 (GRCm39)	K21R	probably benign	Het
Pycr1	T	A	11: 120,532,050 (GRCm39)	I239F	probably damaging	Het
R3hdm2	C	T	10: 127,334,285 (GRCm39)	R896C	probably damaging	Het
Rev3l	C	T	10: 39,722,725 (GRCm39)	P699S	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 84,725,625 (GRCm39)		probably benign	Het
Sel1l	A	T	12: 91,791,658 (GRCm39)	M351K	possibly damaging	Het
Sesn2	A	G	4: 132,226,617 (GRCm39)	L159P	probably damaging	Het
Slc35f4	T	A	14: 49,540,946 (GRCm39)		probably benign	Het
Slc3a1	C	A	17: 85,359,403 (GRCm39)	N409K	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slco1c1	T	C	6: 141,492,502 (GRCm39)	F246S	probably damaging	Het
Socs2	T	G	10: 95,228,681 (GRCm39)	I190L	unknown	Het
Srsf1	T	A	11: 87,938,684 (GRCm39)	I7N	possibly damaging	Het
Stox1	T	A	10: 62,503,620 (GRCm39)	H145L	probably damaging	Het
Trap1	A	T	16: 3,874,286 (GRCm39)	I243N	probably damaging	Het
Trav7-3	T	C	14: 53,681,207 (GRCm39)	I83T	probably benign	Het
Trmt9b	T	C	8: 36,979,078 (GRCm39)	I227T	probably benign	Het
Tuft1	A	T	3: 94,546,712 (GRCm39)	I42K	possibly damaging	Het
Umps	A	G	16: 33,787,344 (GRCm39)	V3A	probably benign	Het
Vim	A	C	2: 13,579,643 (GRCm39)	E134A	probably null	Het
Vmn1r28	C	A	6: 58,242,524 (GRCm39)	H122Q	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Vsig10l	T	A	7: 43,120,274 (GRCm39)	V760D	probably damaging	Het
Xrn1	A	G	9: 95,927,596 (GRCm39)	D1460G	probably benign	Het
Zfp282	A	G	6: 47,874,824 (GRCm39)	D343G	probably damaging	Het
Zfp35	A	G	18: 24,136,778 (GRCm39)	H374R	probably damaging	Het

Other mutations in Prmt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Prmt5	APN	14	54,747,334 (GRCm39)	missense	probably damaging	1.00
IGL01586:Prmt5	APN	14	54,747,408 (GRCm39)	unclassified	probably benign
IGL02063:Prmt5	APN	14	54,748,477 (GRCm39)	nonsense	probably null
IGL02249:Prmt5	APN	14	54,747,322 (GRCm39)	missense	probably damaging	1.00
IGL03024:Prmt5	APN	14	54,754,055 (GRCm39)	missense	possibly damaging	0.93
skipper	UTSW	14	54,747,368 (GRCm39)	missense	probably damaging	1.00
1mM(1):Prmt5	UTSW	14	54,748,957 (GRCm39)	critical splice donor site	probably null
R0485:Prmt5	UTSW	14	54,748,712 (GRCm39)	missense	probably damaging	1.00
R0664:Prmt5	UTSW	14	54,745,313 (GRCm39)	missense	probably damaging	0.99
R1473:Prmt5	UTSW	14	54,746,372 (GRCm39)	missense	probably damaging	1.00
R2106:Prmt5	UTSW	14	54,745,374 (GRCm39)	missense	probably benign	0.00
R2159:Prmt5	UTSW	14	54,752,795 (GRCm39)	missense	probably benign	0.03
R4728:Prmt5	UTSW	14	54,745,364 (GRCm39)	missense	probably benign	0.00
R4843:Prmt5	UTSW	14	54,753,582 (GRCm39)	missense	probably benign	0.33
R5277:Prmt5	UTSW	14	54,747,399 (GRCm39)	missense	probably benign	0.02
R5736:Prmt5	UTSW	14	54,752,297 (GRCm39)	missense	probably null	0.84
R5892:Prmt5	UTSW	14	54,747,368 (GRCm39)	missense	probably damaging	1.00
R5945:Prmt5	UTSW	14	54,752,344 (GRCm39)	missense	possibly damaging	0.52
R7021:Prmt5	UTSW	14	54,752,845 (GRCm39)	missense	probably damaging	1.00
R7091:Prmt5	UTSW	14	54,748,799 (GRCm39)	splice site	probably null
R7172:Prmt5	UTSW	14	54,752,343 (GRCm39)	missense	possibly damaging	0.92
R7574:Prmt5	UTSW	14	54,745,347 (GRCm39)	missense	possibly damaging	0.48
R9019:Prmt5	UTSW	14	54,753,564 (GRCm39)	missense	probably benign	0.01
R9234:Prmt5	UTSW	14	54,748,674 (GRCm39)	missense	possibly damaging	0.72
R9302:Prmt5	UTSW	14	54,749,583 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- AAGAGAACTCAGAGCTGCTTC -3'
(R):5'- ATGGCTCCCTTCCTGTACAG -3'

Sequencing Primer
(F):5'- CAGAGCTGCTTCCAAGGTTTTGAC -3'
(R):5'- CTGTCTTTAGATGCCCCAGAAGAG -3'

Posted On

2016-07-06